RESUMEN
Abstract Ulnar club hand is a rare condition of the upper limbs, for which treatment depends on the degree of morphological and functional impairment, correlating with the radiographic classification of Dobyns, Wood, and Bayne. The aim of the present study is to report a case of a 6-year-old male patient, followed up for type III ulnar club hand (total ulnar dysplasia). Despite the initial difficulty of manipulating objects and performing everyday tasks, conservative physical therapy treatment provided strength gain and development of functional skills for daily life. We conclude that patients with type III deformity can be properly managed with rehabilitation although they require outpatient follow-up until skeletal maturity is reached, as dynamic deformities and new functional limitations may lead to need for corrective surgeries.
Resumo A mão torta ulnar é uma rara afecção de membros superiores, cujo tratamento depende do grau de comprometimento morfológico e funcional, que se correlaciona com a classificação radiográfica de Dobyns, Wood e Bayne. O objetivo deste estudo é relatar um caso de um paciente de 6 anos de idade, do sexo masculino, acompanhado devido a mão torta ulnar do tipo III (aplasia total da ulna). Apesar da dificuldade inicial de manipular objetos e realizar tarefas cotidianas, o tratamento conservador fisioterapêutico propiciou o ganho de força e o desenvolvimento de habilidades funcionais para a vida diária. Concluímos que pacientes com deformidade do tipo III podem ser manejados adequadamente com reabilitação embora necessitem de seguimento ambulatorial até a maturidade esquelética, pois deformidades dinâmicas e novas limitações funcionais podem levar à necessidade de cirurgias corretivas.
Asunto(s)
Humanos , Masculino , Niño , Cúbito/anomalías , Deformidades Congénitas de la Mano , Deformidades Congénitas de las Extremidades Superiores , Ectromelia , Anomalías MusculoesqueléticasRESUMEN
Abstract Synostosis is a generic term to indicate the union of two originally separated bones. At the elbow, humeroradial or longitudinal synostosis causes significant disability, which varies depending on hand function, elbow positioning, adjacent joints mobility and contralateral limb function. It is estimated that, to date, a little more than 150 patients have been described with this deformity, which is more common in subjects with deficient ulnar formation or affected by conditions such as Antley-Bixler and Hermann syndromes. The lack of the elbow joint, with the formation of a longer bone due to humerus-radius fusion, results in stiffness. As such, it is assumed that fractures in this topography are not uncommon. However, since synostosis is rare, this lesion was only described twice in the literature. We report two patients with a fracture of the single bone formed by a humeroradial synostosis and Bayne type-IV ulnar formation failure. Both patients were treated surgically with success. We emphasize the need for adequate treatment to not compromise the daily activities of patients who are adapted to their deformity, thus avoiding worsening the function of a previously affected limb.
Resumo Sinostose é um termo genérico utilizado para indicar a união de dois ossos originalmente separados. No cotovelo, a sinostose rádio-umeral ou longitudinal causa importante incapacidade, que varia a depender da função da mão, da posição do cotovelo, da mobilidade das articulações adjacentes e da função do membro contralateral. Estima-se que um pouco mais de 150 pacientes foram descritos até hoje com essa deformidade, sendo mais frequente em portadores de deficiência de formação ulnar ou podendo fazer parte de síndromes como de Antley-Bixler e de Hermann. Devidoàrigidezcausadapelaausênciadaarticulaçãodocotovelo,queresultana formação de um osso mais longo com a fusão do úmero no rádio, presume-se que fratura nessa topografia não seja incomum. No entanto, pela raridade dessa patologia, tal lesão apresenta apenas duas descrições prévias na literatura. Relatamos os casos de dois pacientes com fratura do osso único formado pela sinostose entre o úmero e o rádio portadores de falha de formação ulnar do tipo IV de Bayne. Ambos os pacientes foram tratados de forma cirúrgica e evoluíram bem. Salientamos a necessidade do tratamento adequado para não comprometer as atividades da vida de um paciente já adaptado à deformidade, evitando piorar a função de um membro já alterado.
Asunto(s)
Humanos , Masculino , Niño , Persona de Mediana Edad , Radio , Sinostosis/cirugía , Anomalías Congénitas , Cúbito/anomalíasRESUMEN
Abstract Objective The present study aimed to evaluate esthetic and functional outcomes from the surgical treatment of Madelung deformity in children. MethodThis is a retrospective study of pediatric patients with Madelung deformity who were surgically treated with dome osteotomy of the distal radius and Vickers ligament section from 2015 to 2018. Patients with a minimum postoperative follow-up period of 12 months were included. Demographic data, surgical technique, clinical and radiographic outcomes were analyzed. Pre and postoperative radiographic evaluation consisted of ulnar tilt, lunate subsidence lunate fossa angle, and palmar carpal displacement measurements. The postoperative clinical evaluation consisted of ranges of motion of the wrist, visual analog scale (VAS) and Disabilities of the Arm, Shoulder and Hand (DASH) score. Results Four patients were included, two with idiopathic Madelung deformity and two with bone dysplasia. All patients were females and presented bilateral disease. Six wrists were operated on. The median age at surgery was 15.5 years old, and the median postoperative follow-up time was of 37.5 months. The postoperative radiographic analysis revealed an average correction of 8.8 ± 7.5° for ulnar tilt, 3.0 ± 3.9 mm for lunate subsidence 8.2 ± 6.6° for lunate fossa angle, and 4.7 ± 2.6 mm for palmar carpal displacement. Average postoperative ranges of motion of the wrist joint were 75.8 ± 3.4° for flexion, 62.5 ± 14.1° for extension, 25.7 ± 2.9° for radial deviation, 40.0 ± 2.9° for ulnar deviation, 88.3 ± 2.4° for pronation, and 82.5 ± 2.5° for supination. The median VAS was 1 for residual pain, 0 for functional deficit, 0 for esthetic impairment, and 10 for recommending the surgical procedure. The median DASH score was 0. Conclusion Madelung deformity treatment using dome osteotomy of the distal radius and Vickers ligament section results in excellent esthetic and functional outcomes.
Resumo Objetivo Avaliar o resultado estético e funcional do tratamento cirúrgico da deformidade de Madelung em idade pediátrica. MétodoEstudo retrospectivo dos pacientes com deformidade de Madelung em idade pediátrica tratados cirurgicamente através de osteotomia em cúpula do rádio distal e secção do ligamento de Vickers entre 2015 e 2018. Foram incluídos doentes com tempo de seguimento pós-operatório mínimo de 12 meses. Foram analisados dados demográficos, técnica cirúrgica, resultados clínicos e radiográficos. A avaliação radiográfica pré e pós-operatória consistiu na medição da inclinação ulnar, do afundamento semilunar, do ângulo da fossa semilunar e do desvio palmar do carpo. A avaliação clínica pós-operatória consistiu na medição das amplitudes articulares do punho, escala visual analógica (EVA) e score Disabilities of the Arm, Shoulder and Hand (DASH). Resultados Foram incluídos quatro pacientes, dois com Madelung idiopática e dois com displasia óssea, todos do sexo feminino e com doença bilateral. Foram operados 6 punhos, a idade mediana à data de cirurgia foi 15,5 anos, e o tempo mediano de seguimento pós-operatório foi de 37,5 meses. Na análise radiográfica pós-operatória, verificou-se uma correção média de 8,8 ± 7,5° da inclinação ulnar, de 3 ± 3,9 mm do afundamento semilunar, de 8,2 ± 6,6° do ângulo da fossa semilunar e de 4,7 ± 2,6 mm do desvio palmar do carpo. Na avaliação da amplitude articular média pós-operatória, registrou-se uma flexão de 75,8 ± 3,4°; extensão de 62,5 ± 14,1°; desvio radial de 25,7 ± 2,9°; desvio cubital de 40,0 ± 2,9; pronação de 88,3 ± 2,4°; supinação de 82,5 ± 2,5°. Registou-se EVA mediana para dor residual = 1, défice funcional = 0, prejuízo estético = 0, e recomendação de procedimento cirúrgico = 10. A mediana do score DASH foi 0. Conclusão O tratamento da deformidade de Madelung através da osteotomia em cúpula do rádio distal e secção do ligamento de Vickers permite obter um excelente resultado estético e funcional.
Asunto(s)
Humanos , Femenino , Niño , Osteotomía , Radio (Anatomía)/anatomía & histología , Anomalías Congénitas , Cúbito/anomalías , Enfermedades del Desarrollo Óseo , Estudios RetrospectivosRESUMEN
OBJECTIVE: This study was undertaken to identify pathological conditions within the population living at Atalla (1000-500 BCE), an important early village site and ritual center located in Huancavelica, Peru. MATERIALS: Articulated burials (N = 3) and commingled human remains excavated during the 2015 and 2016 field seasons. METHODS: Osteological remains were analyzed for macroscopic evidence of pathological changes. RESULTS: A case of bilateral proximal radioulnar fusion was observed in an Early Horizon (ca. 800 BCE) subadult skeleton (Individual 1). A differential diagnosis of this pathology supports congenital radioulnar synostosis (CRUS), a rare developmental condition. Enamel hypoplasia was also identified in the same individual. CONCLUSIONS: Burial treatment of Individual 1 does not provide any indication that CRUS was afforded an exceptional social significance. CONTRIBUTION TO PALEOPATHOLOGY: This example of CRUS is notable as it represents the second published archaeological case of CRUS from Peru and the earliest reported case globally. LIMITATIONS OF THIS STUDY: The osteological sample currently available from this site is limited. SUGGESTIONS FOR FUTURE RESEARCH: Increased fieldwork in this region is recommended to further clarify the distribution and social significance of CRUS in the prehistoric Andes.
Asunto(s)
Radio (Anatomía)/anomalías , Sinostosis/historia , Sinostosis/patología , Cúbito/anomalías , Preescolar , Hipoplasia del Esmalte Dental/historia , Historia Antigua , Humanos , Paleontología , Perú , Radio (Anatomía)/patología , Cúbito/patologíaRESUMEN
OBJECTIVE: To review perinatal Radial Ray Anomaly (RRA) cases born at the National Institute of Perinatology, Mexico, and to reveal the heterogeneous diagnoses of these patients. METHODS: All patients with RRA over a 18 mo period were included; 4/15 were detected prenatally and 11/15 postnatally. Karyotype was performed for all patients with bilateral RRA; and chromosomal breakage analysis, when the karyotype was normal. RESULTS: Fifteen RRA patients were identified: one with trisomy 18, three with an isolated defect, six with monogenic disease, four with a genetic association and one with diabetic embryopathy. Five were stillborn and two died during the early neonatal period; all of whom presented with multiple defects. Three of the live born patients and one stillborn with multiple defects had Fanconi anemia. RRAs carry a high perinatal mortality rate (47%) when they occur in association with other defects. CONCLUSIONS: The assessment of these patients needs to involve the combined use of ultrasound, clinical, genetic, cytogenetic and molecular testing. The present results indicate that the chromosome breakage test should always be performed to rule out Fanconi anemia in this group.
Asunto(s)
Radio (Anatomía)/anomalías , Pulgar/anomalías , Cúbito/anomalías , Deformidades Congénitas de las Extremidades Superiores/genética , Anomalías Múltiples/mortalidad , Anemia de Fanconi/mortalidad , Femenino , Humanos , Recién Nacido , Cariotipificación , Masculino , México/epidemiología , Diagnóstico Prenatal , Deformidades Congénitas de las Extremidades Superiores/mortalidadRESUMEN
Agnathia-otocephaly or agnathia-sinotia-microstomy syndrome is the most severe malformation affecting the first branchial arch. It is a rare congenital anomaly characterized by absence of the lower jaw and abnormal ear positioning. Prenatal diagnosis is possible on conventional 2-D ultrasound in the second trimester. Three-dimensional ultrasound enhances detection of abnormal facial phenotype, especially in surface rendering mode. In addition, 3-D volume datasets are used to produce a physical model of the anomaly. We present a case of second trimester ultrasound diagnosis of agnathia-otocephaly associated with limb deformities. A physical model produced using 3-D ultrasound volume datasets facilitated better understanding of this congenital malformation, and improvement of parental counselling and management by the multispecialist team.
Asunto(s)
Anomalías Craneofaciales/diagnóstico por imagen , Exposición Materna , Descongestionantes Nasales/efectos adversos , Oximetazolina/efectos adversos , Ultrasonografía Prenatal/métodos , Adulto , Región Branquial/anomalías , Región Branquial/diagnóstico por imagen , Femenino , Peroné/anomalías , Peroné/diagnóstico por imagen , Dedos/anomalías , Dedos/diagnóstico por imagen , Humanos , Interpretación de Imagen Asistida por Computador , Imagenología Tridimensional/métodos , Embarazo , Primer Trimestre del Embarazo/efectos de los fármacos , Segundo Trimestre del Embarazo , Cúbito/anomalías , Cúbito/diagnóstico por imagenRESUMEN
BACKGROUND: Congenital radioulnar synostosis (CRUS) refers to an abnormal connection between the radius and ulna due to embryological failure of separation. Derotational osteotomy has been advocated for children with functional limitations, although historically this procedure has been associated with a 36% complication rate including compartment syndrome and loss of correction. METHODS: A retrospective evaluation of consecutive patients who underwent derotational osteotomy for CRUS at a single institution was performed. Children with functional limitations secondary to excessive pronation were indicated for surgery with a goal of correction to 10 to 20 degrees of pronation. All patients were treated with a standardized surgical technique including careful subperiosteal elevation, rotational osteotomy at the level of the synostosis, control of the osteotomy fragments, appropriate pinning techniques, and prophylactic forearm fasciotomies. Electronic medical records, preoperative radiographs, and postoperative radiographs were reviewed. RESULTS: Derotational osteotomy was performed in 31 forearms in 26 children (13 bilateral, 13 unilateral) with a mean age of 6.8 years (range, 3.0 to 18.8 y). The mean clinical follow-up was 46 months (range, 6 to 148 mo). The mean preoperative pronation deformity was 85 degrees (range, 60 to 100 degrees). The mean correction achieved was 77 degrees (range, 40 to 95 degrees), resulting in a mean final position of 8 degrees of pronation (range, 0 to 30 degrees). All patients successfully achieved union by 8 weeks postoperatively. There were no cases of compartment syndrome, vascular compromise, or loss of fixation. The overall complication rate was 12% (2 transient anterior interosseous nerve palsies, 1 transient radial nerve palsy, 1 symptomatic muscle herniation). Both transient anterior interosseous nerve palsies occurred in patients with rotational corrections exceeding 80 degrees. CONCLUSIONS: Derotational osteotomy can be safely and effectively performed in children with CRUS. Meticulous surgical technique, including control of the osteotomy, judicious pin fixation, and prophylactic fasiotomies, may diminish the risk of neurovascular compromise and loss of correction. Transient anterior interosseous nerve palsies occurred, and may be related to large rotational corrections.
Asunto(s)
Antebrazo , Osteotomía , Radio (Anatomía)/anomalías , Sinostosis , Cúbito/anomalías , Adolescente , Niño , Preescolar , Femenino , Antebrazo/fisiopatología , Antebrazo/cirugía , Humanos , Masculino , Osteotomía/efectos adversos , Osteotomía/métodos , Periodo Posoperatorio , Pronación/fisiología , Radiografía , Radio (Anatomía)/diagnóstico por imagen , Radio (Anatomía)/fisiopatología , Radio (Anatomía)/cirugía , Estudios Retrospectivos , Sinostosis/diagnóstico por imagen , Sinostosis/fisiopatología , Sinostosis/cirugía , Resultado del Tratamiento , Cúbito/diagnóstico por imagen , Cúbito/fisiopatología , Cúbito/cirugíaRESUMEN
It has been suggested that children prenatally exposed to methimazole may present some features in common but the phenotype remains to be defined. The reported facial features include upward slanted palpebral fissures, arched flared eyebrows and small nose with a broad bridge. Choanal atresia and other anomalies like esophageal atresia and aplasia cutis were also described with this embryopathy. Additionally, developmental delay was reported in some patients along with one of these major malformation. We present a patient with the mentioned facial features, developmental delay and radio-ulnar synostosis whose mother has been exposed to methimazole during pregnancy and any other ethiological cause could be recognize.
Asunto(s)
Anomalías Inducidas por Medicamentos , Anomalías Múltiples , Antitiroideos/efectos adversos , Facies , Metimazol/efectos adversos , Humanos , Lactante , Masculino , Fenotipo , Radiografía , Radio (Anatomía)/anomalías , Sinostosis/inducido químicamente , Sinostosis/diagnóstico por imagen , Cúbito/anomalíasRESUMEN
Avaliaram-se os compósitos de hidroxiapatita sintética e carbono (HAC) e hidroxiapatita sintética, carbono e fosfato biácido de sódio (HACF), ambos na forma sólida, como substituto ósseo em 36 coelhos adultos. Após protocolos anestésico e cirúrgico habituais, retirou-se um fragmento de aproximadamente 2cm de comprimento no terço médio da ulna esquerda. Os animais do grupo 1 receberam, em cada falha provocada, blocos de HAC e HACF, e os do grupo 2 somente HAC. Os do grupo 3 não receberam tratamento. Os animais foram submetidos a avaliações clínicas e radiológicas nos dias 8, 15, 30, 60, 120 e 180 de pós-operatório. Nas mesmas datas, dois animais de cada grupo foram sacrificados e deles colheu-se material para histologia. Observou-se evolução normal da regeneração óssea em todos os animais, sendo mais precoce nos dos grupos que receberam os compósitos. O uso de HAC e HACF na ulna de coelho mostrou-se um método eficiente, não apresentando sinais de infecção e nem evidência de rejeição.
Asunto(s)
Animales , Regeneración Ósea , Conejos/anatomía & histología , Durapatita/administración & dosificación , Durapatita/uso terapéutico , Cúbito/anomalías , Cúbito/cirugíaRESUMEN
Avaliaram-se os compósitos de hidroxiapatita sintética e carbono (HAC) e hidroxiapatita sintética, carbono e fosfato biácido de sódio (HACF), ambos na forma sólida, como substituto ósseo em 36 coelhos adultos. Após protocolos anestésico e cirúrgico habituais, retirou-se um fragmento de aproximadamente 2cm de comprimento no terço médio da ulna esquerda. Os animais do grupo 1 receberam, em cada falha provocada, blocos de HAC e HACF, e os do grupo 2 somente HAC. Os do grupo 3 não receberam tratamento. Os animais foram submetidos a avaliações clínicas e radiológicas nos dias 8, 15, 30, 60, 120 e 180 de pós-operatório. Nas mesmas datas, dois animais de cada grupo foram sacrificados e deles colheu-se material para histologia. Observou-se evolução normal da regeneração óssea em todos os animais, sendo mais precoce nos dos grupos que receberam os compósitos. O uso de HAC e HACF na ulna de coelho mostrou-se um método eficiente, não apresentando sinais de infecção e nem evidência de rejeição.(AU)
Composites of synthetic hydroxyapatite and carbon (HAC) and synthetic hydroxyapatite, carbon and sodium biacid phosphate (HACF), both of them in solid form, as substitute in bone regeneration were studied. Thirty-six rabbits divided in three groups were used. After routine anesthetic and surgical procedure, a bone fragment with two-centimeter in length was taken from the middle part of the left ulna. Animals from group 1 received one block of HAC and HACF, from group 2 received only HAC, in the criated bone defect, and animals from group 3 did not receive any treatment. They were submitted to clinical and radiographic examinations at 8, 15, 30, 60, 120 and 180 days after surgery to evaluate bone healing. At the same dates, two animals of each group were enthanised and bone fragments were collected for histological evaluations. The results showed normal evolution of bone regeneration in all groups but faster in animals that received the composites. The use of HAC and HACF showed to be efficient and biocompatible, and not caused rejection.(AU)
Asunto(s)
Animales , Durapatita/administración & dosificación , Durapatita/uso terapéutico , Regeneración Ósea , Cúbito/anomalías , Conejos/anatomía & histología , Cúbito/cirugíaRESUMEN
We describe a Brazilian girl with a congenital circumferential nail on her left ring finger associated with other bony and soft tissue abnormalities of the affected limb. The tubular nail plate resembling a punch biopsy has been described as a circumferential nail, an extremely rare congenital malformation that can be associated with other congenital anomalies. In our review of the literature, there have only been two previous reports of this unusual condition affecting the fingernails.
Asunto(s)
Dedos/anomalías , Uñas Malformadas , Niño , Femenino , Humanos , Metacarpo/anomalías , Radio (Anatomía)/anomalías , Cúbito/anomalíasRESUMEN
Os autores apresentam uma série de seis casos de deficiência ulnar congênita do tipo II da classificaçäo radiológica de Dobyns, Wood & Bayne. Enfatizam a técnica de ressecçäo do extremo distal da ulna e do extremo proximal do rádio (luxado) como método de eleiçäo para esses casos. Em seus resultados, puderam concluir que essas osteotomias para ressecçäo, além de auxiliar a correçäo das deformidades, trazem ganho da amplitude articular e impedem a progressäo da doença com o crescimento
Asunto(s)
Humanos , Masculino , Femenino , Preescolar , Niño , Adolescente , Deformidades Congénitas de la Mano/cirugía , Cúbito/cirugía , Deformidades Congénitas de la Mano/clasificación , Deformidades Congénitas de la Mano , Estudios de Seguimiento , Resultado del Tratamiento , Cúbito/anomalíasRESUMEN
Estudamos, prospectivamente, 18 pacientes portadores de deformidade de Madelung idiopática clássica, de acordo com a classificaçäo de Nielsen (1977), no período de 1987 a 1993. Vinte e cinco punhos foram subetidos a correçäo cirúrgica pela osteotomia do rádio e da ulna. Os pacientes foram avaliados pré e pós-operatoriamente por parâmetros clínicos, radiográficos e quanto à satisfaçäo com o tratamento, baseados nos aspectos funcionais e estéticos. Os resultados foram submetidos à análise estatística, comparando-os aos dados pré-operatórios. Observamos melhora significante da força e dos movimentos do punho. A dor estava presente em 50 por cento dos pacientes e melhorou em 88 por cento destes. Do ponto de vista funcional, o tratamento se mostrou satisfatório em 95 por cento e a estética final do punho foi satisfatória em 83 por cento dos pacientes. Com relaçäo às complicaçöes, observamos um paciente com infecçäo superficial e um com algoneurodistrofia. Concluímos que esta técnica é eficaz em pacientes portadores de deformidade de Madelung acima de 16 anos de idade.
Asunto(s)
Humanos , Femenino , Adolescente , Adulto , Osteotomía , Radio (Anatomía)/anomalías , Radio (Anatomía)/cirugía , Cúbito/anomalías , Cúbito/cirugía , Articulación de la Muñeca/anomalías , Articulación de la Muñeca/cirugía , Fuerza de la Mano , Estudios Prospectivos , Estadísticas no ParamétricasRESUMEN
We report on five Brazilian patients from three unrelated families with congenital anomalies of the upper limbs. Ulnar aplasia/hypoplasia was the main reason for examining these patients. Evidence for existence of an ulnar developmental field is based on genetic heterogeneity. Clinical and genetic aspects of the ulnar ray defects are discussed.